Search Results - "Brouillard, Pascal"

Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformations.

Authors: Brouillard, Pascal Schlögel, Matthieu J. Homayun Sepehr, Nassim et al.

Source: Orphanet Journal of Rare Diseases. 6/10/2021, Vol. 16 Issue 1, p1-12. 12p.

Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes.

Authors: Harvengt, Antoine Pirlot, Gauthier Denizli, Leyan et al.

Source: Cells (2073-4409). Mar2026, Vol. 15 Issue 5, p484. 20p.

EPHB4 mutation causes adult and adolescent‐onset primary lymphedema.

Authors: Greene, Arin K. Brouillard, Pascal Sudduth, Christopher L. et al.

Source: American Journal of Medical Genetics. Part A; Dec2021, Vol. 185 Issue 12, p3810-3813, 4p

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

Authors: Brambila-Tapia, Aniel Jessica Leticia García-Ortiz, José Elías Brouillard, Pascal et al.

Source: Hematology. Sep2017, Vol. 22 Issue 8, p467-471. 5p.

Hypotrichosis‐lymphedema‐telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.

Authors: Coulie, Richard Niyazov, Dmitriy M. Gambello, Michael J. et al.

Source: American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2153-2159, 7p

A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms.

Authors: Welsch, Sophie Harvengt, Antoine Gallo, Paola et al.

Source: Diabetes & Metabolism Journal. Sep2024, Vol. 48 Issue 5, p949-959. 12p.

Linkage disequilibrium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC.

Authors: Irrthum, Alexandre Brouillard, Pascal Enjolras, Odile et al.

Source: European Journal of Human Genetics. Jan2001, Vol. 9 Issue 1, p34. 5p.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.

Authors: Schlögel, Matthieu J Mendola, Antonella Fastré, Elodie et al.

Source: Orphanet Journal of Rare Diseases. May2015, Vol. 10 Issue 1, p52-62. 11p. 1 Color Photograph, 1 Diagram, 1 Chart, 2 Graphs.

Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.

Authors: Pollet, Hélène Cloos, Anne-Sophie Stommen, Amaury et al.

Source: Biomolecules (2218-273X). Aug2020, Vol. 10 Issue 8, p1120. 1p.

Developmental Vascular Biology and Genetics Workshop VI and Vascular Inflammation Workshop organized by NAVBO.

Source: Angiogenesis Oct2014; Vol. 17 (4).

Journal Info: Publisher: Springer Nature ISSN: 0969-6970